Download Free Medical Hemoglobinopathies in Pregnancy PowerPoint Presentation

Hemoglobinopathies in Pregnancy PowerPoint Presentation

DOWNLOAD MEDICAL POWERPOINT PRESENTATION

About This Presentation

Description : Check out this medical presentation on Obstetrics & Gynecology, which is titled "Hemoglobinopathies in Pregnancy", to know about Hemoglobinopathies in Pregnancy.

Tags : Obstetrics, Gynecology, Hemoglobinopathies, Pregnancy

Published on : Jul 18, 2021 | Views : 2842 | Downloads : 4

Shareable Url :

Embed Code :

Comment

Transcript

Slide 1-

Hemoglobinopathies in Pregnancy Pregnancy ECHO Lauren Theilen, MD May 4th, 2018
Slide 2-

Hemoglobin structure 4 interlocking polypeptide chains with attached heme molecules Hemoglobin A = 2 alpha + 2 beta Hemoglobin F = 2 alpha + 2 gamma Hemoglobin A2 = 2 alpha + 2 delta Hemoglobinopathies = single-gene disorders Structural hemoglobin variants Thalassemias
Slide 3-

Sickle cell disease – pathophysiology A group of autosomal recessive disorders of beta globin structure Hb S Hb C Under conditions of decreased oxygen tension, red blood cells become distorted Vaso-occlusion Hemolysis
Slide 4-

Sickle cell disease – complications Pain: distinguish acute painful episode from life-threatening crisis Infection: bacteremia, meningitis, pneumonia Multiorgan failure: requires prompt exchange transfusion Anemia: chronic compensated hemolysis, crises Neurologic: stroke, TIA, epilepsy, PRES Pulmonary: acute chest syndrome, pulmonary hypertension Renal: chronic kidney disease, hypertension, renal infarct Skeletal: dactylitis, osteoporosis, osteomyelitis, avascular necrosis Cardiac: cardiomyopathy, myocardial infarction, dysrhythmia Hepatobiliary: acute ischemia, transfusional iron overload Pregnancy: IUGR, IUFD, preeclampsia
Slide 5-

Thalassemias Reduced synthesis of globin chains* leading to microcytic anemia Classified according to globin chain affected Alpha Beta Different molecular mechanisms arose in different parts of the world *Can also have structural changes in alpha globin chains (Hb Constant Spring, Hb Qong Sze), but these are much less common.
Slide 6-

Alpha thalassemia
Slide 7-

Beta thalassemia Mutation in beta globin gene causing either absent or deficient beta chain production Heterozygotes have beta-thalassemia minor Often seen in association with Hb S If no normal beta chain production, results in clinically severe sickle cell-beta thalassemia with no production of Hb A Homozygotes have either beta-thalassemia major or beta-thalassemia intermedia Depends on the degree of beta chain production associated with the specific mutation
Slide 8-

Genetic counseling Hemoglobinopathies are heritable conditions Autosomal recessive, with some caveats Ethnicity not always a good predictor of risk
Slide 9-

Screening Start with CBC/MCV Part of routine prenatal labs Hemoglobin electrophoresis African descent Microcytic anemia with normal ferritin Solubility testing inadequate DNA-based testing for alpha globin gene deletions Microcytic anemia with normal ferritin AND normal hemoglobin electrophoresis
Slide 10-

Summary of clinical pearls Offer carrier screening to individuals at increased risk for being hemoglobinopathy carriers CBC and hemoglobin electrophoresis are appropriate initial lab tests for hemoglobinopathy screening NOT solubility testing Offer genetic counseling to couples at risk for having a child with sickle cell disease or thalassemia Pregnant women with sickle cell disease or thalassemia should be co-managed with hematology and MFM
Slide 11-

Questions?